نتائج البحث - "Segmental Duplications, Genomic"

المصدر: LonDownS Consortium 2021, ' Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models ', Scientific Reports, vol. 11, no. 1, 5736, pp. 5736 . https://doi.org/10.1038/s41598-021-85062-3Test
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Protein-Arginine N-Methyltransferases, Genetics of the nervous system, Disease, Transgenic Model, Amyloid beta-Protein Precursor, Mice, Segmental Duplications, Genomic, 0302 clinical medicine, Amyloid precursor protein, Transgenes, Genetics, Genetic dissection, 0303 health sciences, Multidisciplinary, Genetic interaction, Neurodegenerative diseases, Neurodevelopmental disorders, Brain, Publisher Correction, 3. Good health, Phenotype, Genetic linkage study, Medicine, Down syndrome, Science, Mice, Transgenic, Biology, Article, Protein Aggregates, 03 medical and health sciences, LonDownS Consortium, Alzheimer Disease, Seizures, mental disorders, medicine, Animals, Beta (finance), Gene, 030304 developmental biology, Amyloid beta-Peptides, Phosphotransferases, medicine.disease, Chromosomes, Mammalian, Survival Analysis, Disease Models, Animal, Solubility, biology.protein, Diseases of the nervous system, Down Syndrome, Trisomy, Chromosome 21, 030217 neurology & neurosurgery, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f83a4e1ba0ab588ff5b0683fcd3d75dTest
http://hdl.handle.net/10044/1/88295Test

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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

المؤلفون: Catherine J. Chu, Naomi Meeks, Feyza Yilmaz, Yulia Mostovoy, Chin Lin, Pui-Yan Kwok, Curtis R. Coughlin, Elizabeth A. Geiger, Tamim H. Shaikh, Stephen K. Chow, Urvashi Surti, Kathryn C. Chatfield

المساهمون: Shendure, J

المصدر: Genetics, vol 217, iss 2
Genetics

مصطلحات موضوعية: Heart Defects, Congenital, Williams Syndrome, Developmental Disabilities, Population, Locus (genetics), Chromosome Disorders, Biology, Chromosomes, Structural variation, Craniofacial Abnormalities, 03 medical and health sciences, Congenital, Chromosome Breakpoints, Segmental Duplications, Genomic, 0302 clinical medicine, Gene mapping, Seizures, Intellectual Disability, Genotype, Genetics, Humans, 2.1 Biological and endogenous factors, Aetiology, Repeated sequence, education, genomic disorders, segmental duplications, 030304 developmental biology, Segmental duplication, Heart Defects, Investigation, Chromosomes, Human, Pair 15, 0303 health sciences, education.field_of_study, Pair 16, Mental Disorders, Breakpoint, Human Genome, Pair 15, structural variation, 030220 oncology & carcinogenesis, Genomic Structural Variation, Genomic, genome mapping, Chromosome Deletion, Chromosomes, Human, Pair 16, Human, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0eaeab5762aa68104935b8aa68d68d4eTest
https://escholarship.org/uc/item/15562671Test

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Fabry disease: Detection of Alu-mediated exon duplication by NGS

المؤلفون: Arwa Al-Dilaimi, Lothar Faber, Jörn Kalinowski, Martin Farr, Alexander Goesmann, João Paulo Oliveira, Volker Rudolph, Susana Ferreira, Cornelius Knabbe, Sonja Bögeholz

المصدر: Molecular and Cellular Probes. 45:79-83

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e529384e4434bc0d17859a8ffdae56Test
https://doi.org/10.1016/j.mcp.2019.03.008Test

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